NM_000019.4(ACAT1):c.239-8del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 22, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001717032.2

Allele description [Variation Report for NM_000019.4(ACAT1):c.239-8del]

NM_000019.4(ACAT1):c.239-8del

Gene:

ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000019.4(ACAT1):c.239-8del

HGVS:

NC_000011.10:g.108134213del
NG_009888.2:g.22509del
NM_000019.4:c.239-8delMANE SELECT
NM_001386677.1:c.239-8del
NM_001386678.1:c.120+2259del
NM_001386679.1:c.-39-8del
NM_001386681.1:c.-32-8del
NM_001386682.1:c.-32-8del
NM_001386685.1:c.-32-8del
NM_001386686.1:c.-32-8del
NM_001386687.1:c.-32-8del
NM_001386688.1:c.-32-8del
NM_001386689.1:c.-32-8del
NM_001386690.1:c.-32-8del
NM_001386691.1:c.-32-8del
LRG_1400t1:c.239-8del
LRG_1400:g.22509del
NC_000011.9:g.108004928del
NC_000011.9:g.108004940del
NM_000019.4:c.239-8delTMANE SELECT

Links:

dbSNP: rs201199156

NCBI 1000 Genomes Browser:

rs201199156

Molecular consequence:

NM_000019.4:c.239-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386677.1:c.239-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386678.1:c.120+2259del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386679.1:c.-39-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386681.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386682.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386685.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386686.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386687.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386688.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386689.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386690.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]
NM_001386691.1:c.-32-8del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Paraffin Embedding
Paraffin Embedding
The infiltrating of tissue specimens with paraffin, as a supporting substance, to prepare for sectioning with a microtome.<br/>Year introduced: 1992

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001944518	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Jul 22, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001944518

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Jul 22, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001944518.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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